Mutagenetix > Incidental Mutations

Incidental Mutation 'R8140:Mfsd2a'

632470

Institutional Source

Beutler Lab

Gene Symbol

Mfsd2a

Ensembl Gene

ENSMUSG00000028655

Gene Name

major facilitator superfamily domain containing 2A

Synonyms

1700018O18Rik, Mfsd2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122946850-122961188 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122949298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 397 (V397I)

Ref Sequence

ENSEMBL: ENSMUSP00000030408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030408]

AlphaFold

Q9DA75

Predicted Effect

probably benign
Transcript: ENSMUST00000030408
AA Change: V397I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030408
Gene: ENSMUSG00000028655
AA Change: V397I

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	27	39	N/A	INTRINSIC
Pfam:MFS_2	44	500	1.7e-96	PFAM
Pfam:MFS_1	57	450	9.3e-12	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

MGI Phenotype

PHENOTYPE: Homozygotes for a null allele show partial postnatal lethality, reduced body weight, ataxia, and alterations in lipid metabolism and photoreceptor cell development. Homozygotes for a different null allele show a leaky blood-brain barrier and increased CNS-endothelial-cell vesicular transcytosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,611	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,572,715		probably null	Het
Atp7b	C	A	8: 22,028,560	E87D	probably damaging	Het
Bcat2	C	T	7: 45,588,351	P347L	probably damaging	Het
Brox	A	T	1: 183,293,873		probably null	Het
Cd37	A	G	7: 45,238,535	I58T	probably damaging	Het
Cep295	A	T	9: 15,341,533	M333K	probably benign	Het
Chtop	A	G	3: 90,505,393		probably null	Het
Cpa2	A	T	6: 30,544,905	K54N	probably benign	Het
Cpa6	A	G	1: 10,325,294	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,501,589	I2542N	probably benign	Het
Eif5b	G	A	1: 38,051,276	V1179I	probably benign	Het
Erbin	T	C	13: 103,920,294		probably null	Het
Fastkd5	A	T	2: 130,615,250	D473E	possibly damaging	Het
Fchsd1	T	C	18: 37,964,342	E372G	probably damaging	Het
Fgl1	T	C	8: 41,200,609		probably null	Het
Fzd8	T	G	18: 9,213,797	V293G	probably damaging	Het
Gm4787	T	A	12: 81,378,151	H411L	probably benign	Het
Gm49380	G	T	9: 44,111,972	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,135,290	R240C	probably damaging	Het
Hdac5	A	T	11: 102,197,355	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,383,871	S301G	probably benign	Het
Htra4	A	T	8: 25,030,558	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,583,741	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,995,541	I751T	probably damaging	Het
Magi3	T	C	3: 104,034,086	Y851C	probably damaging	Het
Mefv	A	G	16: 3,713,635	S470P	probably benign	Het
Mroh1	C	A	15: 76,433,873	H867N	probably benign	Het
Mthfd1l	C	T	10: 4,007,745	R261*	probably null	Het
Myo3a	A	G	2: 22,407,346	I725M	probably damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,392,957	P22Q	probably damaging	Het
Olfr1179	T	C	2: 88,402,113	T274A	possibly damaging	Het
Olfr1497	A	T	19: 13,795,239	V124E	possibly damaging	Het
Olfr178	T	C	16: 58,889,585	T212A	probably benign	Het
Peg10	C	G	6: 4,756,113	Q230E	unknown	Het
Pipox	T	C	11: 77,883,909	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,047,497	R993H	probably benign	Het
Pkdrej	A	C	15: 85,818,410	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,746,376	R291Q	probably benign	Het
Pomt1	T	A	2: 32,244,297	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,299,235	S78P	probably damaging	Het
Rgl1	A	T	1: 152,557,501	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,601,774	E14G	unknown	Het
Sh3rf3	T	A	10: 59,049,355	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,322,259	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,488,690	D274E	probably damaging	Het
Syne2	T	A	12: 75,912,353	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,895,176	D2170A	probably damaging	Het
Tnr	A	G	1: 159,863,695	T472A	probably damaging	Het
Tspan9	T	C	6: 127,965,278	H203R	probably damaging	Het
Ttn	T	C	2: 76,771,651	T18556A	possibly damaging	Het
Usp25	T	A	16: 77,071,681	Y323*	probably null	Het
Usp31	G	T	7: 121,649,026	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 19,811,796	T611S	probably damaging	Het
Wdfy4	A	G	14: 33,142,360	V552A		Het
Zap70	G	T	1: 36,771,181	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,632,749	S91T	possibly damaging	Het

Other mutations in Mfsd2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Mfsd2a	APN	4	122949307	missense	probably benign	0.32
IGL02756:Mfsd2a	APN	4	122948539	missense	probably benign	0.30
azure	UTSW	4	122952021	missense	possibly damaging	0.66
R0355:Mfsd2a	UTSW	4	122951839	missense	possibly damaging	0.64
R0394:Mfsd2a	UTSW	4	122950168	missense	probably benign	0.26
R2002:Mfsd2a	UTSW	4	122956816	missense	probably damaging	1.00
R2516:Mfsd2a	UTSW	4	122950487	missense	probably damaging	1.00
R2943:Mfsd2a	UTSW	4	122948589	missense	possibly damaging	0.87
R3052:Mfsd2a	UTSW	4	122951842	missense	probably damaging	1.00
R4811:Mfsd2a	UTSW	4	122959382	missense	probably benign	0.28
R4977:Mfsd2a	UTSW	4	122950509	missense	probably benign
R5030:Mfsd2a	UTSW	4	122950156	missense	possibly damaging	0.90
R5231:Mfsd2a	UTSW	4	122959301	missense	possibly damaging	0.88
R5735:Mfsd2a	UTSW	4	122949327	missense	probably damaging	0.98
R6173:Mfsd2a	UTSW	4	122951246	missense	probably benign
R6321:Mfsd2a	UTSW	4	122949372	missense	probably benign	0.06
R6433:Mfsd2a	UTSW	4	122950457	missense	probably benign	0.01
R6736:Mfsd2a	UTSW	4	122951261	missense	probably benign
R6793:Mfsd2a	UTSW	4	122950705	missense	probably benign	0.02
R7073:Mfsd2a	UTSW	4	122951295	missense	possibly damaging	0.91
R7255:Mfsd2a	UTSW	4	122952021	missense	possibly damaging	0.66
R7382:Mfsd2a	UTSW	4	122952123	missense	possibly damaging	0.53
R7868:Mfsd2a	UTSW	4	122956855	missense	possibly damaging	0.93
R8095:Mfsd2a	UTSW	4	122951271	missense	probably damaging	1.00
R8136:Mfsd2a	UTSW	4	122951867	missense	probably benign	0.27
R8832:Mfsd2a	UTSW	4	122949309	missense	probably benign	0.01
R8842:Mfsd2a	UTSW	4	122951830	missense	probably damaging	0.98
R9048:Mfsd2a	UTSW	4	122960975	missense	probably benign
R9084:Mfsd2a	UTSW	4	122950201	missense	probably damaging	1.00
Z1176:Mfsd2a	UTSW	4	122951839	missense	probably benign	0.44
Z1176:Mfsd2a	UTSW	4	122959311	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TAGACATTCTGCTTGGCAAAGAG -3'
(R):5'- ACATCGGGATCTCTGTGAGTG -3'

Sequencing Primer
(F):5'- TCTGCTTGGCAAAGAGAGGGC -3'
(R):5'- GTGGCTCAAAGGGCAGAGTTG -3'

Posted On

2020-06-30